R106G (p.Arg106Gly) variant of TNXB (Tenascin-X)
R106G (p.Arg106Gly) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R106G (p.Arg106Gly) variant details
- p.Arg106Gly
- rs1189846234
- ClinGen CA363491699
- ClinVar RCV003310222
- TOPMed rs1189846234
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 24.50
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available